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Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.

Experimental & molecular medicine - 30 Apr 2006

Kim In Joo, Kim Yeon Joo, Son Byeong Hee, Nam Sang Ook, Kang Hoon Chul, Kim Heung Dong, Yoo Mi Ae, Choi Ook Hwan, Kim Cheol Min

Abstract excerpt

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein 2). In this study, we performed diagnostic mutational analysis of the MECP2 gene in RTT patients. Four exons and a putative promoter of the MECP2 gene were analyzed from the peripheral blood of 43 Korean...

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Source

Identifiers

PMID: 16672765
DOI: 10.1038/emm.2006.15

Genes

MECP2
TRD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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